Associated Papers
A FEN1-EDCR dual-amplification strategy for ultrasensitive detection of CHCHD10 c.176C>T mutation.
Pan H et al.
Biosensors & Bioelectronics, 2026
FDA-approved PDE4 inhibitors alleviate the dominant toxicity of ALS-FTD-associated CHCHD10S59L in Drosophila and human cells.
Maitra S et al.
Iscience, 2026
CHCHD2 links mitochondrial dysfunction and α-synuclein misfolding in Parkinson's disease.
Narendra D et al.
Trends in Neurosciences, 2026
Genetic commonalities between rare subtypes of ALS and CMT: insights into molecular mechanisms of neurodegeneration.
Aynaashe A et al.
Amino Acids, 2026
ALS-related proteinopathies: From TDP-43 to mitochondrial proteinopathies.
Genin EC et al.
Current Opinion in Neurobiology, 2026
A mouse model of CHCHD10 p.R15L familial ALS presents mild, age-related motor neuron degeneration without protein instability or mitochondrial dysfunction.
Park J et al.
Biorxiv : the Preprint Server for Biology, 2025
Mutant CHCHD10 disrupts cytochrome c oxidation and activates mitochondrial retrograde signaling.
Campos-Ribeiro MA et al.
Embo Molecular Medicine, 2025
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Cogan G et al.
Brain : a Journal of Neurology, 2025
SLP2/PHB Aggregates in ALS Mouse Models and Patients: Implications Beyond CHCHD10-Associated Motor Neuron Disease.
Genin EC et al.
International Journal of Molecular Sciences, 2025
Deficient Cardiolipin Remodeling Alters Muscle Fiber Composition and Neuromuscular Connectivity in Barth Syndrome.
Matias C et al.
Biorxiv : the Preprint Server for Biology, 2025
The mechanisms underlying TDP-43-associated neurodegeneration in Alzheimer's disease and related dementias.
Gao J et al.
Molecular Psychiatry, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L family.
Kwan JY et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration.
Lv G et al.
Nature Communications, 2025
Impacts of pathogenic mutations on the structures of the CHCHD10 monomer: An AlphaFold3 study linked to the generation of conformational ensembles.
Akkum FI et al.
International Journal of Biological Macromolecules, 2025
Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism.
Harjuhaahto S et al.
Acta Neuropathologica Communications, 2025
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models.
Ropert B et al.
Brain : a Journal of Neurology, 2025
Chchd10: A Novel Metabolic Sensor Modulating Adipose Tissue Homeostasis.
Wu X et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Dysregulation of mitochondrial α-ketoglutarate dehydrogenase leads to elevated lipid peroxidation in CHCHD2-linked Parkinson's disease models.
Gao G et al.
Nature Communications, 2025
Polyamine metabolism dysregulation contributes to muscle fiber vulnerability in ALS.
Ruggieri V et al.
Cell Reports, 2025
Combined impact of CHCHD10 p.Gly66Val and three other variants suggests oligogenic contributions to ALS.
Wang Y et al.
Frontiers in Neurology, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
The Underestimated Role of Iron in Frontotemporal Dementia: A Narrative Review.
Ferretti S et al.
International Journal of Molecular Sciences, 2024
Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.
Luan T et al.
Neuroscience Bulletin, 2024
DELE1 maintains muscle proteostasis to promote growth and survival in mitochondrial myopathy.
Lin HP et al.
The Embo Journal, 2024
FDA-approved PDE4 inhibitors alleviate the dominant toxicity of ALS-FTD-associated CHCHD10S59L by reducing the PINK1/Parkin pathway.
Maitra S et al.
Research Square, 2024
Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration.
Lv G et al.
Biorxiv : the Preprint Server for Biology, 2024
Synaptopathy: presynaptic convergence in frontotemporal dementia and amyotrophic lateral sclerosis.
Clayton EL et al.
Brain : a Journal of Neurology, 2024
The impacts of the mitochondrial myopathy-associated G58R mutation on the dynamic structural properties of CHCHD10.
Alici H et al.
Journal of Biomolecular Structure & Dynamics, 2024
FDA-approved PDE4 inhibitors reduce the dominant toxicity of ALS-FTD-associated CHCHD10 S59L.
Maitra S et al.
Biorxiv : the Preprint Server for Biology, 2024
CHCHD10S59L/+ mouse model: Behavioral and neuropathological features of frontotemporal dementia.
Genin EC et al.
Neurobiology of Disease, 2024
Pathogenesis of Parkinson's disease: from hints from monogenic familial PD to biomarkers.
Hattori N et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
High fat diet ameliorates mitochondrial cardiomyopathy in CHCHD10 mutant mice.
Southwell N et al.
Embo Molecular Medicine, 2024
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.
Chatterjee M et al.
Nature Medicine, 2024
DELE1 promotes translation-associated homeostasis, growth, and survival in mitochondrial myopathy.
Lin HP et al.
Biorxiv : the Preprint Server for Biology, 2024
High fat diet ameliorates mitochondrial cardiomyopathy in CHCHD10 mutant mice.
Southwell N et al.
Biorxiv : the Preprint Server for Biology, 2023
CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.
Shammas MK et al.
Human Molecular Genetics, 2023
Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion.
Liu T et al.
Cells, 2023